Galactemia is a medical term that refers to an excess of galactose in the blood. The word is pronounced as "ɡəˌlækˈtiːmiə" in IPA phonetic transcription. The first syllable "ɡəˌlæk" indicates the stress falls on the second syllable. Additionally, the "le" is pronounced as "lə" rather than "lɛ" due to the presence of schwa. The last syllable "tiːmiə" includes a long "i" sound and a schwa at the end. Proper spelling is important in medicine as it ensures clear communication and understanding among healthcare professionals.
Galactemia is a medical term that refers to a condition characterized by the presence of galactose in the bloodstream. It is a rare hereditary metabolic disorder that affects the body's ability to properly metabolize galactose, a sugar found primarily in milk and dairy products. Galactemia is typically caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT), which is responsible for breaking down galactose into glucose.
When a person with galactemia ingests galactose-containing foods, such as milk, the body is unable to properly convert galactose into a usable form of energy. As a result, galactose levels accumulate in the bloodstream, leading to various symptoms and potential complications. Infants with galactemia may exhibit poor growth, failure to thrive, and feeding difficulties after consuming lactose-containing formulas or breast milk. If left untreated, galactemia can lead to serious health problems, such as liver damage, cataracts, intellectual disability, and developmental delays.
The diagnosis of galactemia is typically confirmed through laboratory tests that measure the levels of galactose and its metabolites in the blood. Treatment involves strict avoidance of galactose-containing foods, including milk, lactose, and products derived from dairy. This can be achieved by substituting lactose-free or soy-based formulas for infants, and individuals with galactemia may need to follow a lifelong galactose-restricted diet. With early diagnosis and appropriate management, individuals with galactemia can lead relatively normal lives and prevent potential complications associated with this disorder.